T25P (p.Thr25Pro) variant of COQ8A (Q8NI60)
T25P (p.Thr25Pro) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T25P (p.Thr25Pro) variant details
- p.Thr25Pro
- gnomAD 1-226961458-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available